Private health?

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May 9, 2014 |
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The success of Public Health Genomics – using genome-based information and technologies for the benefit of public health – is dependent on access to vast biobanks of data. But how, when and with whom should our DNA and medical data be shared? How can we protect patients’ genomic data without stifling research?

Last year, Yaniv Erlich, a 34-year-old ex-security specialist turned computational biologist, rocked the genomics world by showing that it is possible to discover the identities of anonymous people who participate in genetic research studies. He did so by cross-referencing their genetic data with surnames found on the internet.

Earlier studies, such as by Nils Homer in 2008, had already shown that people listed in anonymous genetic databases could be unmasked by matching their data to a sample of their DNA. All that was needed was some DNA obtained from a discarded paper coffee cup, and open source Genome Wide Association Studies (GWAS) datasets to associate particular individuals with specific diseases.

But Erlich, named ‘The Genome Hacker’ by science magazine Nature showed something else: that it is possible to identify people by linking their genetic data to freely available information. All it took was an internet connection and a smart piece of software – an algorithm called lobSTR, vulnerabilities in databases that hold sensitive information on thousands of people around the world.

‘With the current speed of genomic advances…everybody, be it on a personal level, or at a European decision making level, needs to start forming an opinion on it.’

Privacy is dead

‘In the genomics era, privacy is dead’. This phrase was heard several times at the PACITA Policy Hearing on Public Health Genomics that took place in January in Lisbon. It did not raise many eyebrows, though. The hearing, which aimed to address pressing political issues related to genomic technologies, brought together an eclectic gathering of international geneticists, technology assessment practitioners, public health experts, parliamentarians, jurists, patient representatives and policymakers. The PACITA ambitions were high: it wanted to bring stakeholders and politicians together to set a policy agenda for the ‘responsible introduction of Public Health Genomics’.

2014: The PACITA policy hearing on Public Health Genomics in the Portugese parliament brought together politicians, experts and TA practioners.

Perhaps there was simply too much to discuss, that day in Lisbon, and too many aspects of public health genomics to deal with. When politicians were asked at the end of the day, what they would take home as a pressing political issue, a member of the European Parliament said: “With the runaway costs of spending on public health, and genomics being a possible tool for that, it is an interesting topic. But when I get home, nobody is going to care about what I learned today, because they are only interested in day-to-day politics.” Another one answered: “Well, I guess I’ve got more questions now than I had before I came. I had a naïve hope that the experts would tell me what to do. I have got a kind of picture of where we’re going, but no clue of how we will get there.”

The ultimate identifierHuman DNA sequence is often called the ‘ultimate identifier’. Our DNA is unique (except for identical twins). It can be used to predict a variety of medical conditions and traits. Think: hair, skin and eye colour, facial features, height, and, allegedly, even smoking habits. Recent studies suggest that our genes steer our voting and economic behaviour, and our ability to stick to our spouses in marriage.

Compelling reasons

There are many compelling reasons for politicians to meet with geneticists and other stakeholders, though. In less than a decade, whole genome sequencing (WGS) has moved from a revolutionary moon-landing-style science project to a worldwide seedbed of entrepreneurial activity. The price of DNA sequencing technologies is dropping so rapidly that experts believe our children will have their full genomes read as part of their medical record, and as part of a completely new model of personalised public healthcare. But alongside the anticipated public health benefits, come lots of ethical and legal issues. How, when and with whom should we share our DNA and medical data? Policymakers and researchers will need to tread very carefully in crafting policies that protect patients’ genome data without stifling research.

DNA and privacy

The privacy and confidentiality concerns about whole genome data go a lot further than a simple decision about whether to have your genome sequenced for private medical reasons, and if so, whether these data should become part of your medical record. Sequencing a whole genome is still primarily done for research purposes, as scientists piece together which genetic mutations play a role in diseases. This often happens in large-scale (cohort) studies, some of them open source, which compare the DNA of two large groups of individuals, one healthy control group and one case group affected by a disease. Whole genome research involves the collection and storage of a biological sample, the sequencing of the genome, data analysis, and, more and more frequently, the release and exchange of these data in scientific databases to facilitate research.

But these processes are complicated by a number of other issues: the quantity of genetic information that is made available to commercial parties and public private partnerships, the commercialization of research results, the combination of genetic data and electronic health files, out of date consent procedures, data anonymisation capabilities and many other privacy concerns.

Monetarisation of medical data

The day after the PACITA hearing in Lisbon, some of the urgent political issues surrounding Public Health Genomics – and it’s dependence on big data – hit the headlines, as British newspaper The Guardian reported on the potential commercial availability of medical records in the new care.data service proposed by the National Health Service (NHS England). The scheme aims to ‘join up’ doctors’ and hospital medical records of millions of citizens in order to improve medical services. To help diagnose drug side effects, for example, and evaluate the performance of hospital surgical units and procedures, by tracking their impact on patients. The newly established data services provider, the Health and Social Care Information Service (HSCIS) will have the legal right to extract data from GP Practices – a process that was meant to begin this month (see below). The extracted information is anonymised to some extent – stripped of the patient’s name – but the records do contain (parts of) a person’s NHS number, date of birth, postcode, ethnicity and gender. The care.data plan is part of a huge governmental investment scheme that aims to boost the British life sciences industry. Collecting, storing, and analysing ‘national healthcare, public health and social care data, including personal data’, should make the UK, the ‘leader in the race for better tests, better drugs and above all, more personalised care to save lives’, as Jeremy Hunt, UK Secretary of State for Health stated.

‘Care.data needs to work: in medicine, data saves lives’

What’s gone wrong with care.data?

Widespread unease expressed by both the medical profession and patient groups have led to the roll out of the scheme being put on hold for six months.

Care.data has run into a volley of privacy accusations. Would police and government bodies have the right to access people’s medical data? Even when medical data has been anonymised, how easy is it piece together evidence to identify an individual and thereby discover information about them from their health record? It doesn’t help that the NHS has form in the sloppy care of medical records. Right wing newspaper The Daily Mail, reported that in 2012, the NHS ‘lost track of 1.8 million confidential patient records in a single year’. ‘Sensitive’ paper records have been dumped in public bins and landfill sites. Computers containing medical records were found for sale on ebay, the newspaper reported. The opt-out procedure, rather than an opt-in scheme did not pass muster either. Patients who want to opt out of care.data need to arrange it with their GP. And it is not clear what data will be blocked. According to some experts, it is inevitable that the medical data of all Britons – whether with consent or not – will be sucked into the database. What seems universally agreed is that patient awareness – of the benefits as well as privacy implications – is at very low levels. Organisations such as the British Medical Association have therefore welcomed the delay. ‘Care.data is in chaos’, wrote Ben Goldacre in The Guardian in Feburary. “HSCIC needs to regain trust, by releasing all documentation on all past releases, urgently. Care.data needs to work: in medicine, data saves lives.”

DNA and medical records

Selling sensitive medical data of citizens is one thing that would need careful democratic deliberation. But when DNA is to become part of electronic health records – as envisioned by Personal Health Genomics enthusiasts – many believe that public awareness and political scrutiny becomes even more important. In the UK, according to British NGO Genewatch, it is indeed the ultimate aim of the British Government to have the genomes of all 60 million Britons sequenced and attached to their electronic health records. In July 2013, the Department of Health announced the launch of Genomics England and the start of the 100k Genomes Project. Over the next five years, the personal DNA of up to 100,000 NHS patients will be sequenced. A spokesperson for this project said: “This unrivalled knowledge will help doctors’ understanding, leading to better and earlier diagnosis and personalised care. Based on expert scientific advice, we will start by tackling cancer, rare diseases and infectious diseases.” UK prime minister David Cameron stated: “It is crucial that we continue to push the boundaries and this new plan will mean we are the first country in the world to use DNA codes in the mainstream of the health service. By unlocking the power of DNA data, the NHS will lead the global race for better tests, better drugs and above all better care.”

‘The development of biobank infrastructure and the use of this as a basis for personalised medicine has become a central strategic goal in the fields of European biotechnology, genomics and international politics’

For researchers, the linking of genomic data to data from medical health records is crucial. To fully understand what triggers disease or not, DNA has to be linked to other factors, such as health data and lifestyle and social and environmental factors. To figure out what exactly causes lung cancer, one would not only study genes and smoking habits but also demographics: postal codes, to see if air pollution plays a part in developing disease.

The collection of bio specimens, like samples of urine, blood, tissue, cells, DNA, RNA, and protein and other data, for research purposes is nothing new. It has a long history in educational and medical systems, remaining largely uncontroversial, hidden away in the seclusion of pathology institutes. But with recent genomics advances, big data claims and booms in IT technology, the potential of opening up existing collections of bio specimen in biobanks, or starting new collections, has become a feverish pursuit. All around the globe, governments and companies are rushing into ambitious projects to find out how genome technology can best be used in a medical context. Huge data sets, with the DNA of hundreds of thousands of people, are needed to uncover genetic links (that have so far proved elusive), but that are needed to address the promise of personal medicine. As a report by the European Commission states: “The development of biobank infrastructure and the use of this as a basis for personalised medicine has become a central strategic goal in the fields of European biotechnology, genomics and international politics.”

World leaders

According to the European Commission, EU member states already are ‘world leaders in the development of biobanking infrastructure to support research, making huge investments each year to support such initiatives’. To give some examples: over the past few years, the UK Biobank has recruited 500,000 people aged between 40-69 years to provide blood, urine and saliva samples for future analysis. They provided detailed information about themselves and agreed to have their health followed for a long time. The Faroe Islands, an autonomous country within the Kingdom of Denmark, is offering genomic sequencing to all of the citizens of this archipelago, to understand the particular genetic diseases prevalent in this isolated population.

The same is happening elsewhere. In November 2011, the Beijing Genomics Institute launched the Million Human Genomes Project, to decode the genomes of over 1 million people for projects based in China and abroad. In the US, the US Department of Veterans Affairs (VA) has been collecting the medical records and blood samples of a million U.S. veterans since 2012. Dr. Joel Kupersmith, the VA’s chief research and development officer told US newspaper The Baltimore Sun that researchers: “have long seen the potential at the VA because the system has 8 million enrollees of various ages and ethnicities with most every kind of age, health, and service-related disorder. All have an electronic medical record stretching up to 15 years.”

Personalised medicine?

DNA is the basis of all life on earth, including human life. The methodologies for reading the DNA sequence – to unravel the code of life – are currently undergoing revolutions in both speed and cost. The first complete sequence of the human genome, completed in 2003, took more than a decade to complete, at a price of roughly 3 billion euros. These days, it takes roughly 2-4 weeks to read the full DNA of a human at a cost of 2,000-5,000 euros. Within the next five years, it is expected to take just one day, for less than 500 euros. According to genomics believers, the two major consequences will be: that medicine will become genome-based, personalised: products, tests and supplements tailor made to our unique building plan.

The second consequence will be an increase in ‘predictive’ diagnosis: our DNA could be used to reveal the strong and weak points of our body, our talents and any hidden risks including genetic diseases. Although we are still in the early days of understanding the genetic code, progress is being made regarding disease-associated DNA variants. Genome-based research is already enabling medical researchers to develop more effective diagnostic tools, to better understand the health needs of people based on their individual genetic make-ups, and to design new treatments for disease. Most new drugs based on genome-based research are estimated to be at least 10 to 15 years away. It is very difficult to predict how much of our lives will by driven by our DNA in the end. From what we know now, both disease and health stem from a combination of our DNA, our environment and our lifestyle.

Reluctant donors

A big problem with biobanking, though, is that in Europe, hardly anybody knows about it. A 2010 Euro barometer survey on life sciences and biotechnology, conducted in 32 European countries, showed that more than two thirds of all Europeans said they have never heard of biobanks. When there were told, many European citizens appeared to be reluctant to become donors or participants in cohort studies. According to the survey, concerns about privacy and confidentiality are the first things that spring to mind. Although many people these days seem willing to post their intimate information on social networks, medical data are still considered as being highly sensitive. Sharing medical information, illnesses and ailments, is tightly connected to the doctor-patient relationship, and the fundamental right of medical confidentiality. People also fear that the long term storage of their data could be turned against them, through the violation of their privacy rights or through discrimination by insurers or employers.

Consent

One of the most controversial aspects of biobanking is the current use of ‘broad consent’, for those enrolling in a biobank rather than seeking ‘informed consent’ from participants. For practical reasons, according to the EU Commission, ‘broad consent is now the norm for biobank recruitment’. Participants are asked to consent once to the broad use of their samples and data, rather than to specific, new or future research projects. This is not simply because researchers are reluctant to add extra barriers to their work and would prefer to spend time on their research rather than wrestle with added layers of bureaucracy. Sometimes asking for renewed consent has no benefit for patients; sometimes it is simply impossible. This is a problem for studies that use archived samples, for example. These samples were often collected using a consent process (if a consent process was used at all) that did not anticipate the potential identifiability of genomic data. But the use of broad consent for biobanking creates tensions because “data may be shared with large numbers of researchers, including commercial companies, both nationally and internationally, for purposes which may be unclear when the data sets are collected.” according to the PACITA Expert report. A recent international study involving European wide focus groups was very clear on consent. Despite the perceived (research) need for broad consent, a large majority of Europeans (67%) would choose narrow consent and only 24% broad consent. As the authors observed: “It was a minority of people who thought it appropriate not to be asked for permission to have their details and samples entered in a biobank.”

‘China has by far the biggest genomics industry worldwide, and we exchange lots of data with the Chinese, but do you think they care much for privacy or human rights?’

Lacking rules

Research and biobanking communities have a long tradition in successfully guarding privacy and medical confidentiality and are scrambling to maintain this within a big data environment. They are setting up research ethics boards and data access committees, reviewing and publishing codes of conduct and governance mechanisms, and developing encryption and key management systems to restrict data access. But at present, genome researchers simply have no model to follow for protecting the privacy of genetic donors. As one geneticist quietly joked at the PACITA hearing: “China has by far the biggest genomics industry worldwide, and we exchange lots of data with the Chinese, but do you think they care much for privacy or human rights?”

The problem is that there is no clarity on consent procedures, and no consistent and coherent rules in the areas of privacy, data protection, the use of human tissue in research, and the exchange of these data across national borders. There are big differences between the implementation and enforcement of legal provisions, even among the EU countries that have signed the Data Protection Directive. Data protection rules are currently being revised by the new Data Protection Regulation, which is expected later this summer. However, biobank managers have en masse expressed concern that too strict a regulatory framework for human biobanks within Europe will create uncertainty and inhibits the building of a biobank infrastructure.

The current regulatory vacuum leads to heightened tensions between the individuals’ need for privacy and confidentiality, and the needs of researchers and biobankers for their pursuit of a societal benefit. Is asking for ‘broad consent’ in a genomic era ethically appropriate, and if it is, how should it be handled? Too strict a focus on privacy and confidentiality is likely to hamper research. Many researchers feel that because of privacy rules, a lot of what is learned from genetic studies is neither published nor shared, and is therefore lost. David Altshuler, deputy director of the Broad Institute of MIT and Harvard, recently said in Scientific American: “There are literally millions of people who participate in medical research, and probably over a million people whose genomes have been characterized in some way or another, where the data is not freely available precisely because of privacy concerns.”

Biobanks are often paid for with taxpayers money and strongly depend on public support – if only for donations of samples and data. As the EU Commission report notes how these are controversial undertakings: “Not all biobank projects are warmly reviewed by all groups in society.” US President Obama’s Bioethicist Commission reported in 2013: “Without public trust, people may not be as willing to allow scientists to study their genetic information.” Securing acceptance and public trust, by creating awareness and transparency, and by finding solutions to balance a range of competing interests, is crucial to a successful translation of genome-based technology from research to the clinic. Weighing competing interests, setting boundaries, and finding a balance between protecting individuals’ privacy and the greater good, is what politicians should do.

‘There are probably over a million people whose genomes have been characterized in some way or another, where the data is not freely available precisely because of privacy concerns.’

Awareness

The need for policy makers to address these public awareness issues more rigorously was emphasized at the PACITA hearing. Stressing the importance of informed citizens, awareness and education, Klaas Dolsma from the Dutch Erfocentrum, the national information centre on genomics and hereditary diseases, said: “With the current speed of genomic advances, it is for sure that at some time in our lives, each and every one of us will have to make decisions about genetic testing and hereditary disease. So everybody, be it on a personal level, or at a European decision making level, needs to start forming an opinion on it.”

Read more?

The Genome Hacker – Erika Check Hayden, Nature (2013)

Think tank on Identifiability of Biospecimens and -Omic Data, US Department of Health and Human Services (2012)

Biobanks for Europe – A Challenge for Governance, European Commission (2012)

Privacy and Progress in Whole Genome Sequencing, US Presidential Commission for the Study of Bioethical Issues (2012)

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volTA magazine

volTA was a magazine on Science, Technology and Society in Europe, initiative of fifteen technology assessment organisations that worked together in the European PACITA project aimed at increasing the capacity and enhancing the institutional foundation for knowledge-based policy-making on issues involving science, technology and innovation. It was published between 2011 and 2015 in 8 numbers.